NCT04103333已完成早期 1 期
A Study to Explore Cerebrospinal Fluid and Blood Biomarkers in Participants With Angelman Syndrome
适应症
试验速览
- 阶段
- 早期 1 期
- 状态
- 已完成
- 发起方
- Biogen
- 入组人数
- 20
- 试验地点
- 10
- 主要终点
- UBE3A Protein Levels in Each Genotype Group
研究概览
简要总结
The primary objective of this study is to measure ubiquitin-protein ligase E3A (UBE3A) protein levels in cerebrospinal fluid (CSF) and to evaluate its utility as a biomarker in support of the development of therapies for AS.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- — 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Ability of the participant's legally authorized representative (LAR) to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use confidential health information in accordance with national and local privacy regulations
- •Must have genetically confirmed diagnosis of AS (UBE3A deletion, UBE3A mutation, paternal uniparental disomy, or imprinting center defect) or dup15q syndrome (with number and size of duplications of 15q specified) provided by the Investigator
- •Must be scheduled for a procedure unrelated to the study that will involve administration of general anesthesia or conscious sedation.
排除标准
- •Lumbar Puncture (LP) procedure less than 30 days before the Sampling Visit
- •Any contraindications to having an LP
- •The blood and CSF collection will, in the opinion of the Investigator, inhibit, in some way, the prescheduled procedure that requires anesthesia or sedation
- •Current enrollment or past enrollment in an interventional clinical study in which an investigational gene therapy or antisense oligonucleotide (ASO) is/was administered
- •Enrollment in an interventional clinical study in which an investigational small molecule/antibody treatment or approved small molecule/antibody therapy is administered within 1 month (or 5 half-lives of study agent, whichever is longer) prior to the Sampling Visit which, under the judgement of the Investigator and/or Sponsor would affect UBE3A and other CSF biomarker levels. Use of approved or investigational small molecule therapies which would not impact the biomarkers above will be eligible with Sponsor approval prior to enrollment (e.g., anti-epileptic drugs being studied in alternative formulation, other derivatives of benzodiazepines, or other same class drugs as those already permitted as part of the study).
- •Note: Other protocol defined inclusion/exclusion criteria may apply.
结局指标
主要结局
UBE3A Protein Levels in Each Genotype Group
时间窗: Baseline up to Day 33
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
时间窗: Baseline up to Day 33
次要结局
未报告次要终点
研究者
研究点 (10)
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